LCT Chromosome 2

Lactase
69 variants 69 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Glycoside hydrolase family 1
Locus Type
gene with protein product
Location
2q21.3
Ensembl
ENSG00000115850
Associated Conditions (3)
Congenital lactase deficiency
LCT-related disorder
Inborn genetic diseases
Key Variants
RS138964370
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS139591272
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS140994860
Conflicting classifications of pathogenicity
Congenital lactase deficiency, LCT-related disorder, Congenital lactase deficiency
Health Risk
RS141075124
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143927262
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS143975097
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS145827881
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS148142216
Conflicting classifications of pathogenicity
Congenital lactase deficiency, LCT-related disorder, Congenital lactase deficiency
Health Risk
RS1483785677
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS148838160
Conflicting classifications of pathogenicity
Inborn genetic diseases, LCT-related disorder, Inborn genetic diseases
Health Risk
RS150024239
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS150722551
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
All Variants (69)
RSID Category Clinical Significance Conditions
RS138964370 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS139591272 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS140994860 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, LCT-related disorder, Congenital lactase deficiency
RS141075124 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143927262 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS143975097 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS145827881 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS148142216 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, LCT-related disorder, Congenital lactase deficiency
RS1483785677 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS148838160 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LCT-related disorder, Inborn genetic diseases
RS150024239 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS150722551 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS151321629 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS1575334525 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS183168007 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, LCT-related disorder, Congenital lactase deficiency
RS183725992 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199709300 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS199901583 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS200277615 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS202186209 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS369410973 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS372534937 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS377228457 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS536128206 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS573401319 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS748206266 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS761696901 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS762651784 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772850804 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776712928 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS777067647 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS778761405 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS886054862 Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS1276818330 Health Risk Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS1312031160 Health Risk Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS1553436217 Health Risk Likely pathogenic —
RS2467223826 Health Risk Likely pathogenic LCT-related disorder, LCT-related disorder
RS2467240516 Health Risk Likely pathogenic LCT-related disorder, LCT-related disorder
RS2467252904 Health Risk Likely pathogenic —
RS2467490891 Health Risk Likely pathogenic —
RS372910833 Health Risk Likely pathogenic —
RS386833833 Health Risk Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS386833834 Health Risk Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS386833835 Health Risk Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS386833837 Health Risk Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS386833838 Health Risk Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS763006562 Health Risk Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS1167914907 Health Risk Pathogenic —
RS121908936 Health Risk Pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS121908937 Health Risk Pathogenic Congenital lactase deficiency, Congenital lactase deficiency
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